Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs549625604 | 0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 | 13 | ||
rs1057515576 | 0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins | 9 | |||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 9 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 8 | |
rs886040857 | 0.882 | 0.240 | X | 24076757 | frameshift variant | TCAA/- | delins | 7 | |||
rs775081992 | 0.851 | 0.240 | 7 | 33152811 | stop gained | C/T | snv | 2.0E-05 | 5 | ||
rs879253799 | 0.882 | 0.320 | 2 | 171443559 | frameshift variant | A/- | delins | 5 | |||
rs1559279177 | 0.851 | 0.160 | 1 | 146018661 | frameshift variant | G/- | del | 5 | |||
rs74315416 | 0.882 | 0.160 | 20 | 5302677 | missense variant | A/C | snv | 2.3E-03 | 2.1E-03 | 1 | |
rs74315418 | 0.827 | 0.160 | 20 | 5314116 | missense variant | C/A;T | snv | 3.3E-04; 7.1E-04 | 1 | ||
rs587777343 | 0.925 | 0.120 | 16 | 682232 | missense variant | C/T | snv | 1 | |||
rs690016544 | 0.882 | 0.160 | 16 | 681186 | missense variant | A/G | snv | 4.8E-06 | 1 | ||
rs144292455 | 0.882 | 0.040 | 4 | 103656258 | stop gained | C/T | snv | 3.1E-04 | 3.8E-04 | 1 |